21-hydroxylase Autoantibody-negative Addison's Disease in a 5-year-old Boy with Adrenal Crisis and Type 1 Diabetes Mellitus

2010 ◽  
Vol 23 (11) ◽  
Author(s):  
Jenn-Tzong Chang ◽  
Ying-Yao Chen ◽  
Pao-Chin Chiu
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Addison’S Disease ◽  
Adrenal Crisis ◽  
Addison's Disease

scholarly journals Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto’s thyroiditis or Addison’s disease in the German population

2005 ◽  
Vol 153 (6) ◽  
pp. 895-899 ◽  
Author(s):  
Heinrich Kahles ◽  
Elizabeth Ramos-Lopez ◽  
Britta Lange ◽  
Oliver Zwermann ◽  
Martin Reincke ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Hashimoto’S Thyroiditis ◽  
Addison’S Disease ◽  
Hashimoto's Thyroiditis ◽  
Addison's Disease ◽  
Healthy Controls ◽  
Significant Difference

Background: Endocrine autoimmune disorders share genetic susceptibility loci, causing a disordered T-cell activation and homeostasis (HLA class II genes, CTLA-4). Recent studies showed a genetic variation within the PTPN22 gene to be an additional risk factor. Materials and Methods: Patients with type 1 diabetes (n = 220), Hashimoto’s thyroiditis (n = 94), Addison’s disease (n = 121) and healthy controls (n = 239) were genotyped for the gene polymorphism PTPN22 1858 C/T. Results: Our study confirms a significant association between allelic variation of the PTPN22 1858 C/T polymorphism and type 1 diabetes mellitus (T1D). 1858T was observed more frequently in T1D patients (19.3% vs 11.3%, P = 0.0009; odds ratio for allele T = 1.88, 95% confidence interval [1.3–2.7]). Furthermore, we found a strong association in female patients with T1D (P = 0.0003), whereas there was no significant difference between male patients with type 1 diabetes and male controls. No significant difference was observed between the distribution of PTPN22 C/T in patients with Hashimoto’s thyroiditis or Addison’s disease and healthy controls. Conclusion: The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.

scholarly journals A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans

2004 ◽  
pp. 193-197 ◽  
Author(s):  
ER Lopez ◽  
O Zwermann ◽  
M Segni ◽  
G Meyer ◽  
M Reincke ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Hashimoto’S Thyroiditis ◽  
Allelic Variation ◽  
Addison’S Disease ◽  
Hashimoto's Thyroiditis ◽  
Addison's Disease ◽  
Graves Disease

BACKGROUND: CYP27B1 hydroxylase catalyzes the conversion of 25 hydroxyvitamin D(3) (25OHD(3)) to 1,25(OH)(2)D(3), the most active natural vitamin D metabolite, which plays a role in the regulation of immunity and cell proliferation. We therefore investigated two single nucleotide polymorphisms in the CYP27B1 hydroxylase gene for an association with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus. METHODS: Patients with Addison's disease (n=124), Hashimoto's thyroiditis (n=139), Graves' disease (n=334), type 1 diabetes mellitus (n=252) and healthy controls (n=320) were genotyped for the promoter (-1260) C/A polymorphism and for the intron 6 (+2838) C/T polymorphism of the CYP27B1 gene. Patients and controls were compared using genotype-wise and allele-wise X(2) testing. RESULTS: A significant association was found between allelic variation of the promoter (-1260) C/A polymorphism and Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus (P=0.0062, P=0.0173, P=0.0094 and P=0.0028 respectively). Significant differences were also observed for the intron 6 (+2838) C/T polymorphism (P=0.0058) in Hashimoto's thyroiditis but not for the other autoimmune endocrine diseases. CONCLUSIONS: The CYP27B1 promoter (-1260) C/A polymorphism appears to be associated with endocrine autoimmune diseases but the CYP27B1 intron 6 (+2838) C/T polymorphism appears to be associated only with Hashimoto's thyroiditis. These results imply a regulatory difference of the CYP27B1 hydroxylase to predispose to endocrine autoimmunity.

scholarly journals Recurrent hypoglycaemia in type-1 diabetes mellitus may unravel the association with Addison’s disease: a case report

2014 ◽  
Vol 7 (1) ◽  
pp. 634 ◽  
Author(s):  
Stefano Passanisi ◽  
Tiziana Timpanaro ◽  
Donatella Lo Presti ◽  
Manuela Caruso-Nicoletti
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Case Report ◽  
Type 1 Diabetes Mellitus ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Recurrent Hypoglycaemia

Acute illness in patients with concomitant Addison's disease and type 1 diabetes mellitus: Increased incidence of hypoglycaemia and adrenal crises

2020 ◽  
Vol 93 (2) ◽  
pp. 104-110
Author(s):  
Brienna Mortimer ◽  
Vaidehi Dhirendra Naganur ◽  
Paul Satouris ◽  
Jerry R. Greenfield ◽  
David J. Torpy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Addison’S Disease ◽  
Acute Illness ◽  
Addison's Disease

scholarly journals An Unusual Presentation of New Onset Type 1 Diabetes Mellitus With Concurrent Addison’s Disease in an Adolescent Male

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A456-A457
Author(s):  
Ethel G Clemente ◽  
Nina Mathew ◽  
Berrin Ergun-Longmire
Keyword(s):  
Diabetes Mellitus ◽  
Blood Pressure ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Adrenal Insufficiency ◽  
Addison’S Disease ◽  
Adolescent Male ◽  
Addison's Disease ◽  
New Onset

Abstract Introduction: Majority of children and adolescents diagnosed with Type 1 Diabetes Mellitus (T1D) present with the classic symptoms of polyuria, polydipsia and polyphagia, associated with hyperglycemia. Concurrent conditions at the time of T1D diagnosis may alter its presentation and potentially lead to challenges in diagnosis and management. Clinical Case: We present a 17-year-old male with worsening fatigue and unintentional weight loss for two months, then one week of emesis and abdominal pain. Initial work-up by his primary care provider showed sodium 125 mmol/L (133–145), potassium 5.7 mmol/L (3.5–5.1), HCO3 20 mmol/L (21–31), anion gap 13 mmol/L (9–18), random glucose 141 mg/dL (70–199). Due to hyponatremia and dehydration, he was sent to a local emergency room where he was found to be mildly hypotensive at 87/57 mmHg. He received intravenous fluids for hydration and was sent home. On out-patient follow up, he appeared well despite being hypotensive. His additional labs revealed a random glucose of 330 mg/dl and elevated HbA1C of 8.3% (4.4–5.6). His urine was positive for glucose but negative for ketones. He was admitted for further management of new onset diabetes. On admission, he was well appearing and in no acute distress. Blood pressure was 86/57 mmHg, heart rate was 109 bpm, and other physical exam findings were unremarkable. Although his hyperglycemia improved after initiation of insulin therapy, his electrolyte abnormalities persisted, raising suspicion for adrenal insufficiency. An ACTH stimulation test was performed, with both baseline and 60-minute cortisol levels low at 1 ug/dl and 0.9 ug/dl, respectively, confirming adrenal insufficiency. He responded well to glucocorticoid and mineralocorticoid replacement. His electrolytes and blood pressure normalized. Further testing confirmed elevated levels of Glutamic Acid Decarboxylase antibodies 0.19 nmol/L (less than 0.02), Islet Antigen 2 Antibodies: 3.38 nmol/L (less than 0.02), and 21-Hydroxylase antibodies, consistent with T1D with concomitant Addison’s disease (AD). Conclusion: About 0.5% of patients with T1D have AD, but the diagnosis of T1D typically precedes AD for several years, thus the coexistence of both autoimmune conditions at diagnosis is rare.

scholarly journals Incidence, prevalence and seasonal onset variation of Addison’s disease among persons with type 1 diabetes mellitus: nationwide, matched cohort studies

2018 ◽  
Vol 178 (1) ◽  
pp. 113-120 ◽  
Author(s):  
Dimitrios Chantzichristos ◽  
Anders Persson ◽  
Björn Eliasson ◽  
Mervete Miftaraj ◽  
Stefan Franzén ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Cohort Studies ◽  
Type 1 Diabetes Mellitus ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Adjusted Relative Risk ◽  
Matched Cohort ◽  
Risk Increase

Objectives We determined the incidence and prevalence of Addison’s disease (AD) among persons with or without type 1 diabetes mellitus (T1DM) in nationwide, matched cohort studies. Methods Persons with T1DM were identified from the Swedish National Diabetes Register and each was matched for age, sex, year and county to five controls randomly selected from the general population. Persons with AD were identified from the Swedish National Inpatient Register. Baseline demographics and seasonal onset variation of AD were presented by descriptive statistics. Prevalence and incidence were estimated by proportions and incidence rates, respectively. Times to AD were analyzed using the Cox proportional hazard model. Results Between 1998 and 2013, 66 persons with T1DM were diagnosed with AD at a mean age (s.d.) of 36.4 (13.0) years among 36 514 persons with T1DM, while 32 were diagnosed with AD at a mean age of 42.7 (15.2) years among 182 570 controls. The difference in mean age at diagnosis of AD between the groups was 6.3 years (P value = 0.036). The incidence of AD for a person with or without T1DM was therefore 193 and 18 per million person-years, respectively. The adjusted relative risk increase of developing AD in T1DM was 10.8 (95% CI: 7.1–16.5). The highest incidence of AD was observed during February–March and September–October. The prevalence of AD in persons with or without T1DM in December 2012 was 3410 and 208 per million, respectively. The odds ratio for AD in persons with T1DM vs controls was 16.5 (95% CI: 11.1–24.5). Conclusion The risk to develop AD among persons with T1DM is more than 10 times higher than in persons without T1DM. Persons with T1DM develop AD at a younger age. The incidence of AD may have a seasonal pattern.

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